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Chapter 47 - Neurocutaneous Melanosis

from Genetic Syndromes and Phakomatoses

Published online by Cambridge University Press:  07 August 2021

Mirna Lechpammer ,
Marc Del Bigio  and
Rebecca Folkerth
By
Mirna Lechpammer
Mirna Lechpammer
Affiliation:
New York University School of Medicine
Marc Del Bigio
Affiliation:
University of Manitoba, Canada
Rebecca Folkerth
Affiliation:
New York University School of Medicine
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Summary

Neurocutaneous melanosis (NCM) is a rare congenital syndrome characterized by the presence of large or multiple congenital melanocytic nevi (CMN) on the skin and benign or malignant melanocytic tumors involving leptomeninges of the central nervous system [1]. The prevalence of NCM is estimated to be 1 in 50,000 to 1 in 200,000 live births [2]. The incidence of NCM with clinical manifestations comprises 30–50% of all cases of NCM. Only around 100 cases of NCM have been reported since the condition was first described in the literature. Risk factors for NCM include male sex and CMN. The presence of melanocytic nevi is apparent after the birth of the child, and neurologic symptoms commonly manifest during the first two years of life [3, 4].

Type
Chapter
Information
Perinatal Neuropathology , pp. 281 - 284
Publisher: Cambridge University Press
Print publication year: 2021

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References

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